{"_buckets": {"deposit": "06da74af-f41a-4743-85b5-80e61f1cb842"}, "_deposit": {"id": "21349", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "21349"}, "status": "published"}, "_oai": {"id": "oai:soar-ir.repo.nii.ac.jp:00021349", "sets": ["462"]}, "author_link": ["109387", "109388", "109389", "109390", "109391", "109392"], "item_1628147817048": {"attribute_name": "出版タイプ", "attribute_value_mlt": [{"subitem_version_resource": "http://purl.org/coar/version/c_970fb48d4fbd8a85", "subitem_version_type": "VoR"}]}, "item_6_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2017-11-20", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "11", "bibliographicPageStart": "2470", "bibliographicVolumeNumber": "18", "bibliographic_titles": [{"bibliographic_title": "INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES"}]}]}, "item_6_description_20": {"attribute_name": "抄録", "attribute_value_mlt": [{"subitem_description": "We found a novel heterozygous mutation in the fibrinogen Bβ chain (c.490G\u003eA) of a 3-year-old girl with congenital hypofibrinogenemia. To clarify the complex genetic mechanism, we made a mini-gene including a FGB c.490G\u003eA mutation region, transfected it into a Chinese Hamster Ovary (CHO) cell line, and analyzed reverse transcription (RT) products. The assembly process and secretion were examined using recombinant mutant fibrinogen. Direct sequencing demonstrated that the mutant RT product was 99 bp longer than the wild-type product, and an extra 99 bases were derived from intron 3. In recombinant expression, a mutant Bβ-chain was weakly detected in the transfected CHO cell line, and aberrant fibrinogen was secreted into culture media; however, an aberrant Bβ-chain was not detected in plasma. Since the aberrant Bβ-chain was catabolized faster in cells, the aberrant Bβ-chain in a small amount of secreted fibrinogen may catabolize in the bloodstream. FGB c.490G\u003eA indicated the activation of a cryptic splice site causing the insertion of 99 bp in intron 3. This splicing abnormality led to the production of a Bβ-chain possessing 33 aberrant amino acids, including two Cys residues in the coiled-coil domain. Therefore, a splicing abnormality may cause impaired fibrinogen assembly and secretion.", "subitem_description_type": "Abstract"}]}, "item_6_description_30": {"attribute_name": "資源タイプ（コンテンツの種類）", "attribute_value_mlt": [{"subitem_description": "Article", "subitem_description_type": "Other"}]}, "item_6_description_5": {"attribute_name": "引用", "attribute_value_mlt": [{"subitem_description": "INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES.18:2470(2017)", "subitem_description_type": "Other"}]}, "item_6_link_3": {"attribute_name": "信州大学研究者総覧へのリンク", "attribute_value_mlt": [{"subitem_link_text": "Taira, Chiaki", "subitem_link_url": "https://soar-rd.shinshu-u.ac.jp/profile/ja.upAVgekh.html"}, {"subitem_link_text": "Matsuda, Kazuyuki", "subitem_link_url": "https://soar-rd.shinshu-u.ac.jp/profile/ja.ganmgekh.html"}, {"subitem_link_text": "Arai, Shinpei", "subitem_link_url": "https://soar-rd.shinshu-u.ac.jp/profile/ja.uCnFPUym.html"}, {"subitem_link_text": "Uehara, Takeshi", "subitem_link_url": "https://soar-rd.shinshu-u.ac.jp/profile/ja.jNyegpkh.html"}, {"subitem_link_text": "Okumura, Nobuo", "subitem_link_url": "https://soar-rd.shinshu-u.ac.jp/profile/ja.OVnmgCkh.html"}]}, "item_6_link_67": {"attribute_name": "WoS", "attribute_value_mlt": [{"subitem_link_text": "Web of Science", "subitem_link_url": "http://gateway.isiknowledge.com/gateway/Gateway.cgi?\u0026GWVersion=2\u0026SrcAuth=ShinshuUniv\u0026SrcApp=ShinshuUniv\u0026DestLinkType=FullRecord\u0026DestApp=WOS\u0026KeyUT=000416811300240"}]}, "item_6_publisher_4": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "MDPI"}]}, "item_6_relation_47": {"attribute_name": "PubMed", "attribute_value_mlt": [{"subitem_relation_name": [{"subitem_relation_name_text": "29156616"}], "subitem_relation_type_id": {"subitem_relation_type_id_text": "https://www.ncbi.nlm.nih.gov/pubmed/29156616", "subitem_relation_type_select": "PMID"}}]}, "item_6_relation_48": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_name": [{"subitem_relation_name_text": "10.3390/ijms18112470"}], "subitem_relation_type_id": {"subitem_relation_type_id_text": "https://doi.org/10.3390/ijms18112470", "subitem_relation_type_select": "DOI"}}]}, "item_6_rights_62": {"attribute_name": "権利", "attribute_value_mlt": [{"subitem_rights": "© 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/)."}]}, "item_6_select_64": {"attribute_name": "著者版フラグ", "attribute_value_mlt": [{"subitem_select_item": "publisher"}]}, "item_6_source_id_35": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "1422-0067", "subitem_source_identifier_type": "EISSN"}]}, "item_6_source_id_39": {"attribute_name": "NII ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "1422-0067", "subitem_source_identifier_type": "PISSN"}]}, "item_6_source_id_40": {"attribute_name": "書誌レコードID", "attribute_value_mlt": [{"subitem_source_identifier": "AA12038549", "subitem_source_identifier_type": "NCID"}]}, "item_6_text_69": {"attribute_name": "wosonly authkey", "attribute_value_mlt": [{"subitem_text_value": "hypofibrinogenemia; FGB; splicing abnormality; cryptic splice site"}]}, "item_6_text_70": {"attribute_name": "wosonly keywords", "attribute_value_mlt": [{"subitem_text_value": "SECRETION; FGG; HYPODYSFIBRINOGENEMIA; DISORDERS; DISULFIDE; CONFIRMS; MISSENSE; DELETION; PROTEIN; GAMMA"}]}, "item_6_textarea_68": {"attribute_name": "wosonly abstract", "attribute_value_mlt": [{"subitem_textarea_value": "We found a novel heterozygous mutation in the fibrinogen B chain (c.490G\u003eA) of a 3-year-old girl with congenital hypofibrinogenemia. To clarify the complex genetic mechanism, we made a mini-gene including a FGB c.490G\u003eA mutation region, transfected it into a Chinese Hamster Ovary (CHO) cell line, and analyzed reverse transcription (RT) products. The assembly process and secretion were examined using recombinant mutant fibrinogen. Direct sequencing demonstrated that the mutant RT product was 99 bp longer than the wild-type product, and an extra 99 bases were derived from intron 3. In recombinant expression, a mutant B-chain was weakly detected in the transfected CHO cell line, and aberrant fibrinogen was secreted into culture media; however, an aberrant B-chain was not detected in plasma. Since the aberrant B-chain was catabolized faster in cells, the aberrant B-chain in a small amount of secreted fibrinogen may catabolize in the bloodstream. FGB c.490G\u003eA indicated the activation of a cryptic splice site causing the insertion of 99 bp in intron 3. This splicing abnormality led to the production of a B-chain possessing 33 aberrant amino acids, including two Cys residues in the coiled-coil domain. Therefore, a splicing abnormality may cause impaired fibrinogen assembly and secretion."}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Taira, Chiaki", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "109387", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Matsuda, Kazuyuki", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "109388", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Arai, Shinpei", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "109389", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Sugano, Mitsutoshi", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "109390", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Uehara, Takeshi", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "109391", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Okumura, Nobuo", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "109392", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "ファイル情報", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2020-05-15"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "ijms-18-02470-v2.pdf", "filesize": [{"value": "1.8 MB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensefree": "© 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).", "licensetype": "license_note", "mimetype": "application/pdf", "size": 1800000.0, "url": {"label": "ijms-18-02470-v2.pdf", "url": "https://soar-ir.repo.nii.ac.jp/record/21349/files/ijms-18-02470-v2.pdf"}, "version_id": "32c26a19-439b-4540-afca-06358af29b5e"}]}, "item_keyword": {"attribute_name": "キーワード", "attribute_value_mlt": [{"subitem_subject": "hypofibrinogenemia", "subitem_subject_scheme": "Other"}, {"subitem_subject": "FGB", "subitem_subject_scheme": "Other"}, {"subitem_subject": "splicing abnormality", "subitem_subject_scheme": "Other"}, {"subitem_subject": "cryptic splice site", "subitem_subject_scheme": "Other"}]}, "item_language": {"attribute_name": "言語", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"resourcetype": "journal article", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "A Novel Mutation in the Fibrinogen Bβ Chain (c.490G\u003eA; End of Exon 3) Causes a Splicing Abnormality and Ultimately Leads to Congenital Hypofibrinogenemia", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "A Novel Mutation in the Fibrinogen Bβ Chain (c.490G\u003eA; End of Exon 3) Causes a Splicing Abnormality and Ultimately Leads to Congenital Hypofibrinogenemia", "subitem_title_language": "en"}]}, "item_type_id": "6", "owner": "1", "path": ["462"], "permalink_uri": "http://hdl.handle.net/10091/00022106", "pubdate": {"attribute_name": "PubDate", "attribute_value": "2020-05-15"}, "publish_date": "2020-05-15", "publish_status": "0", "recid": "21349", "relation": {}, "relation_version_is_last": true, "title": ["A Novel Mutation in the Fibrinogen Bβ Chain (c.490G\u003eA; End of Exon 3) Causes a Splicing Abnormality and Ultimately Leads to Congenital Hypofibrinogenemia"], "weko_shared_id": -1}